Canonical Allele Identifier: CA371335562
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs371522442

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616019A>C , CM000670.2:g.64616019A>C GRCh38
NC_000008.10:g.65528576A>C , CM000670.1:g.65528576A>C GRCh37
NC_000008.9:g.65691130A>C NCBI36
NG_008338.1:g.187773T>G
NG_008338.2:g.187773T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.522T>G MANE Select ENSP00000310721.3:p.Ser174Arg
ENST00000310193.3:c.522T>G ENSP00000310721.3:p.Ser174Arg
NM_004820.3:c.522T>G NP_004811.1:p.Ser174Arg
NM_001324112.1:c.522T>G NP_001311041.1:p.Ser174Arg
NM_004820.4:c.522T>G NP_004811.1:p.Ser174Arg
XM_017014002.1:c.588T>G XP_016869491.1:p.Ser196Arg
NM_004820.5:c.522T>G MANE Select NP_004811.1:p.Ser174Arg
NM_001324112.2:c.522T>G NP_001311041.1:p.Ser174Arg